Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.
We have examined the possibility of genetic heterogeneity in citrullinaemia by measuring the incorporation of [14C]citrulline into protein in PEG-induced heterokaryons derived from paired combinations of fibroblasts from eight patients with varying forms of the disease. The results are compatible with interallelic, but not intergenic, complementation in several of these fusions.
D000592:Amino Acid Metabolism, Inborn Errors; D002460:Cell Line; D002956:Citrulline / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D005816:Genetic Complementation Test; D006801:Humans; D014176:Protein Biosynthesis; D012867:Skin / Q000378:metabolism*
D002956:Citrulline